ClinGen Allele Registry
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Canonical Allele Identifier:
CA340944
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9725
ClinVar RCV Id:
RCV000010375
RCV000507319
RCV000853650
dbSNP Id:
rs41460449
MyVariant Identifiers:
chrMT:g.3394T>C (hg38)
PubMed:
PMID:1442494
PMID:1444915
PMID:1732158
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3394T>C , J01415.2:m.3394T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.88T>C
ENSP00000354687.2:p.Tyr30His
Search 100 bp 5'
Search 100 bp 3'